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22q partial monosomy(VCFS)

MedGen UID:
539297
Concept ID:
C0265489
Disease or Syndrome
Synonyms: Chromosome 22q deletion; Partial deletion of the long arm of chromosome 22; VCFS
SNOMED CT: 22q partial monosomy (19550003)
 
Monarch Initiative: MONDO:0022760
Orphanet: ORPHA262182

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV22q partial monosomy

Professional guidelines

PubMed

Yin R, Wack M, Hassen-Khodja C, McDuffie MT, Bliss G, Horn EJ, Kothari C, McLarney B, Davis R, Hanson K, O'Boyle M, Betancur C, Avillach P
Mol Autism 2024 Sep 30;15(1):40. doi: 10.1186/s13229-024-00619-z. PMID: 39350236Free PMC Article
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A
Genet Med 2015 Oct;17(10):836-8. Epub 2015 Jan 8 doi: 10.1038/gim.2014.197. PMID: 25569438Free PMC Article

Recent clinical studies

Etiology

Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG
Science 2024 May 3;384(6695):584-590. Epub 2024 May 2 doi: 10.1126/science.adl1624. PMID: 38696583Free PMC Article
Pasternak M, Shirzadi Z, Mutsaerts HJMM, Boot E, Butcher NJ, MacIntosh BJ, Heung T, Bassett AS, Masellis M
World J Biol Psychiatry 2023 Mar;24(3):260-265. Epub 2022 Jul 15 doi: 10.1080/15622975.2022.2093969. PMID: 35748435
Boot E, Marras C, Bassett AS
Eur J Hum Genet 2022 Dec;30(12):1314-1317. Epub 2022 Aug 25 doi: 10.1038/s41431-022-01152-4. PMID: 36002662Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2007 Dec;46(4):336-51. doi: 10.1016/S1028-4559(08)60003-0. PMID: 18182339
Murphy KC
Lancet 2002 Feb 2;359(9304):426-30. doi: 10.1016/S0140-6736(02)07604-3. PMID: 11844533

Diagnosis

Scambler P
J Med Genet 2025 Jan 27;62(2):147-149. doi: 10.1136/jmg-2024-110504. PMID: 39837658
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG
Am J Med Genet A 2020 Nov;182(11):2624-2631. Epub 2020 Sep 7 doi: 10.1002/ajmg.a.61841. PMID: 32893956
Bertsch EC, Minturn L, Gotteiner NL, Ernst LM
Pediatr Dev Pathol 2016 Jan-Feb;19(1):61-3. Epub 2015 Jul 31 doi: 10.2350/15-03-1616-CR.1. PMID: 26230226
Chen CP
Taiwan J Obstet Gynecol 2007 Dec;46(4):336-51. doi: 10.1016/S1028-4559(08)60003-0. PMID: 18182339

Therapy

Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG
Science 2024 May 3;384(6695):584-590. Epub 2024 May 2 doi: 10.1126/science.adl1624. PMID: 38696583Free PMC Article
Seeringer A, Reinhard H, Hasselblatt M, Schneppenheim R, Siebert R, Bartelheim K, Leuschner I, Frühwald MC
Cancer Genet 2014 Sep;207(9):429-33. Epub 2014 Jul 3 doi: 10.1016/j.cancergen.2014.06.028. PMID: 25262118
Bläker H, von Herbay A, Penzel R, Gross S, Otto HF
Oncogene 2002 Jan 3;21(1):158-64. doi: 10.1038/sj.onc.1205041. PMID: 11791187
Murthy SS, Testa JR
J Cell Physiol 1999 Aug;180(2):150-7. doi: 10.1002/(SICI)1097-4652(199908)180:2<150::AID-JCP2>3.0.CO;2-H. PMID: 10395284
Biegel JA, Burk CD, Parmiter AH, Emanuel BS
Genes Chromosomes Cancer 1992 Sep;5(2):104-8. doi: 10.1002/gcc.2870050203. PMID: 1381945

Prognosis

Malecki SL, Heung T, Wodchis WP, Saskin R, Palma L, Verma AA, Bassett AS
Genet Med 2024 May;26(5):101088. Epub 2024 Feb 1 doi: 10.1016/j.gim.2024.101088. PMID: 38310401
Bertsch EC, Minturn L, Gotteiner NL, Ernst LM
Pediatr Dev Pathol 2016 Jan-Feb;19(1):61-3. Epub 2015 Jul 31 doi: 10.2350/15-03-1616-CR.1. PMID: 26230226
Tomlinson GE
Front Biosci (Elite Ed) 2012 Jan 1;4(4):1287-92. doi: 10.2741/459. PMID: 22201954
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648
Lawler SD
Clin Haematol 1977 Feb;6(1):55-75. PMID: 334417

Clinical prediction guides

Lee OW, Karyadi DM, Hartley SW, Zhou W, Machiela MJ, Zamani SA, Zurnadzhy LY, Weinstein JN, Park YJ, Seo JS, Thomas GA, Bogdanova TI, Tronko MD, Morton LM, Chanock SJ
Eur Thyroid J 2025 Feb 1;14(1) Epub 2025 Jan 27 doi: 10.1530/ETJ-24-0235. PMID: 39773491Free PMC Article
McGinn DE, Crowley TB, Heung T, Tran O, Moss E, Zackai EH, Emanuel BS, Chow EWC, Morrow BE, Swillen A, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2022 Oct 5;13(10) doi: 10.3390/genes13101800. PMID: 36292685Free PMC Article
Bertsch EC, Minturn L, Gotteiner NL, Ernst LM
Pediatr Dev Pathol 2016 Jan-Feb;19(1):61-3. Epub 2015 Jul 31 doi: 10.2350/15-03-1616-CR.1. PMID: 26230226
Tomlinson GE
Front Biosci (Elite Ed) 2012 Jan 1;4(4):1287-92. doi: 10.2741/459. PMID: 22201954
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

Recent systematic reviews

Namavar Y, Duineveld DJ, Both GIA, Fiksinski AM, Vorstman JAS, Verhoeven-Duif NM, Zinkstok JR
Am J Med Genet B Neuropsychiatr Genet 2021 Jul;186(5):289-317. Epub 2021 Jul 24 doi: 10.1002/ajmg.b.32869. PMID: 34302426
Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG
Am J Med Genet A 2020 Nov;182(11):2624-2631. Epub 2020 Sep 7 doi: 10.1002/ajmg.a.61841. PMID: 32893956
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A
Eur J Hum Genet 2018 Mar;26(3):293-302. Epub 2018 Jan 22 doi: 10.1038/s41431-017-0042-x. PMID: 29358616Free PMC Article

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